Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.

Human molecular genetics - 15 Jun 2018

Dubos Aline, Meziane Hamid, Iacono Giovanni, Curie Aurore, Riet Fabrice, Martin Christelle, Loaëc Nadège, Birling Marie-Christine, Selloum Mohammed, Normand Elisabeth, Pavlovic Guillaume, Sorg Tania, Stunnenberg Henk G, Chelly Jamel, Humeau Yann, Friocourt Gaëlle, Hérault Yann

Abstract excerpt

The aristaless-related homeobox (ARX) transcription factor is involved in the development of GABAergic and cholinergic neurons in the forebrain. ARX mutations have been associated with a wide spectrum of neurodevelopmental disorders in humans, among which the most frequent, a 24 bp duplication in the polyalanine tract 2 (c.428_451dup24), gives rise to intellectual disability, fine motor defects with or without...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cholinergic Neurons
Share to Contracture

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to GABAergic Neurons

Share to Intellectual Disability

Share to Neurodevelopmental Disorders

Share to Prosencephalon

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 29659809
DOI: 10.1093/hmg/ddy122
PMCID: PMC5985730

Genes

ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.PMID 29659809Read ↗

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.Semantic proximity Read ↗

A mouse model of ATRX deficiency with cognitive deficits and autistic traitsSemantic proximity Read ↗

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.Semantic proximity Read ↗

ARX spectrum disorders: making inroads into the molecular pathology.Semantic proximity Read ↗

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Semantic proximity Read ↗

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.Semantic proximity Read ↗

The impact of <i>Mmu</i> 17 non- <i>Hsa</i> 21 orthologous genes in the Ts65Dn mouse model of Down syndrome: the “gold standard” revisitedSemantic proximity Read ↗

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.Semantic proximity Read ↗

New insights into behaviour using mouse ENU mutagenesis.Semantic proximity Read ↗

Mouse mutagenesis and disease models for neuropsychiatric disorders.Semantic proximity Read ↗

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice.Semantic proximity Read ↗

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.